Canonical Allele Identifier: CA2034455623

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985678_47985679delinsGA , CM000674.2:g.47985678_47985679delinsGA	GRCh38
NC_000012.11:g.48379461_48379462delinsGA , CM000674.1:g.48379461_48379462delinsGA	GRCh37
NC_000012.10:g.46665728_46665729delinsGA	NCBI36
NG_008072.1:g.23824_23825delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1473+49_1473+50delinsTC	ENSP00000338213.6:n.1473+49_1473+50delins...
ENST00000380518.8:c.1680+49_1680+50delinsTC MANE Select	ENSP00000369889.3:n.1680+49_1680+50delins...
ENST00000337299.6:c.1473+49_1473+50delinsTC	ENSP00000338213.6:n.1473+49_1473+50delins...
ENST00000380518.7:c.1680+49_1680+50delinsTC	ENSP00000369889.3:n.1680+49_1680+50delins...
ENST00000493991.5:n.604+49_604+50delinsTC
NM_001844.4:c.1680+49_1680+50delinsTC	NP_001835.3:n.1680+49_1680+50delinsTC
NM_033150.2:c.1473+49_1473+50delinsTC	NP_149162.2:n.1473+49_1473+50delinsTC
XM_006719242.2:c.1824+49_1824+50delinsTC	XP_006719305.2:n.1824+49_1824+50delinsTC
XM_011537928.1:c.1824+49_1824+50delinsTC	XP_011536230.1:n.1824+49_1824+50delinsTC
XM_011537929.1:c.1824+49_1824+50delinsTC	XP_011536231.1:n.1824+49_1824+50delinsTC
XM_011537930.1:c.1824+49_1824+50delinsTC	XP_011536232.1:n.1824+49_1824+50delinsTC
XM_011537931.1:c.1824+49_1824+50delinsTC	XP_011536233.1:n.1824+49_1824+50delinsTC
XM_011537932.1:c.1824+49_1824+50delinsTC	XP_011536234.1:n.1824+49_1824+50delinsTC
XM_011537933.1:c.1824+49_1824+50delinsTC	XP_011536235.1:n.1824+49_1824+50delinsTC
XM_011537934.1:c.1821+49_1821+50delinsTC	XP_011536236.1:n.1821+49_1821+50delinsTC
XM_011537935.1:c.768+49_768+50delinsTC	XP_011536237.1:n.768+49_768+50delinsTC
XM_017018828.1:c.1824+49_1824+50delinsTC	XP_016874317.1:n.1824+49_1824+50delinsTC
XM_017018829.1:c.1821+49_1821+50delinsTC	XP_016874318.1:n.1821+49_1821+50delinsTC
XM_017018830.1:c.1614+49_1614+50delinsTC	XP_016874319.1:n.1614+49_1614+50delinsTC
XM_017018831.2:c.1134+49_1134+50delinsTC	XP_016874320.1:n.1134+49_1134+50delinsTC
NM_001844.5:c.1680+49_1680+50delinsTC MANE Select	NP_001835.3:n.1680+49_1680+50delinsTC
NM_033150.3:c.1473+49_1473+50delinsTC	NP_149162.2:n.1473+49_1473+50delinsTC